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Related Concept Videos

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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RET codon 609 mutations: a contribution for better clinical managing.

Caterina Mian1, Paola Sartorato, Susi Barollo

  • 1Department of Medicine, University of Padova, Padova, Italy.

Clinics (Sao Paulo, Brazil)
|May 16, 2012
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Summary

Medullary thyroid carcinoma (MTC) is a rare thyroid cancer. Specific RET gene mutations influence MTC aggressiveness and associated conditions like pheochromocytoma.

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Area of Science:

  • Oncology
  • Genetics
  • Endocrinology

Background:

  • Medullary thyroid carcinoma (MTC) comprises 5-8% of thyroid cancers, with variable clinical behavior.
  • Sporadic MTC typically presents around age 60, while hereditary forms linked to RET mutations occur earlier (20-40 years).
  • Germline RET proto-oncogene mutations cause Multiple Endocrine Neoplasia type 2 (MEN2), showing genotype-phenotype correlations.

Purpose of the Study:

  • To review the genotype-phenotype correlations of RET mutations in MTC.
  • To discuss the specific Cys609Ser RET mutation and its variable impact on MTC aggressiveness and associated endocrine tumors.

Main Methods:

  • Review of previous case reports and literature.
  • Analysis of a large MEN2A kindred with a Cys609Ser germline RET mutation.

Main Results:

  • RET mutations influence MTC onset, progression, and response to targeted therapies.
  • The Cys609Ser RET mutation can be associated with either less aggressive MTC and high pheochromocytoma penetrance, or a more aggressive MTC with low pheochromocytoma and primary hyperparathyroidism penetrance.

Conclusions:

  • Specific RET mutations, like Cys609Ser, demonstrate variable penetrance and expressivity in MTC and associated MEN2 syndromes.
  • Understanding these genotype-phenotype correlations is crucial for predicting disease course and guiding therapeutic strategies.